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相关概念视频

Cell Specific Gene Expression01:58

Cell Specific Gene Expression

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Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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Cell Specific Gene Expression01:58

Cell Specific Gene Expression

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Chromatin Position Affects Gene Expression02:35

Chromatin Position Affects Gene Expression

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Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
Topologically Associated Domains (TADs)
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General Transcription Factors01:30

General Transcription Factors

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Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...
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What is Gene Expression?01:42

What is Gene Expression?

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Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
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What is Gene Expression?01:36

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A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then...
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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对人类组织基因表达的遗传影响

, ,

  • 1Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA.

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基因型-组织表达 (GTEx) 项目揭示了基因变异如何影响44种人类组织的基因表达. 这项研究通过绘制基因调节机制来增强对遗传特征和疾病的理解.

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科学领域:

  • 基因组学
  • 人类遗传学
  • 分子生物学

背景情况:

  • 了解人类遗传变异是识别特征和疾病背后细胞机制的关键.
  • 基因型-组织表达 (GTEx) 项目旨在绘制人类组织和个体的基因表达变异性.

研究的目的:

  • 在44种不同的人体组织中对基因表达的遗传影响的特征.
  • 确定影响基因调节的局部和染色体间遗传效应.

主要方法:

  • 分析44个人类组织的基因表达数据.
  • 鉴定影响基因表达水平的遗传变异.
  • 遗传效应的组织特异性和功能性质的表征.

主要成果:

  • 当地遗传变异影响大多数研究的基因表达.
  • 在93个基因和112个基因位点中确定了染色体间的遗传影响.
  • 鉴定了遗传效应的组织特异性和功能性质.

结论:

  • 来自GTEx的多组织,多个体数据可以识别受疾病相关变异影响的基因和途径.
  • 这种方法为基因调节和人类疾病的遗传基础提供了机械的洞察力.